Brachydactyly, and Toe syndactyly

Low match BARDET-BIEDL SYNDROME 4; BBS4

BBS4 is a rare multisystemic disorder characterized primarily by retinal dystrophy, obesity, polydactyly, and renal dysfunction that accounts for less than 3% of BBS (Katsanis et al., 2002). Anosmia has been described in patients with BBS4 (Iannaccone et al., 2005), as well as polydactyly confined to the hands (Carmi et al., 1995).For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

• Intellectual disability
• Cryptorchidism
• Cognitive impairment
• Brachydactyly
• Blindness

SOURCES: OMIM MENDELIAN

Low match SYNDACTYLY TYPE 5

Syndactyly type 5 (SD5) is a very rare congenital limb malformation characterized by postaxial syndactyly of hands and feet, associated with metacarpal and metatarsal fusion of fourth and fifth digits.

SYNDACTYLY TYPE 5 Is also known as sd5|postaxial syndactyly with metacarpal synostosis|syndactyly with metacarpal and metatarsal fusion

• Brachydactyly
• Syndactyly
• Clinodactyly of the 5th finger
• Camptodactyly of finger
• Abnormality of the foot

SOURCES: ORPHANET MESH OMIM MENDELIAN

Low match ULNAR/FIBULA RAY DEFECT-BRACHYDACTYLY SYNDROME

Ulnar/fibula ray defect - brachydactyly syndrome is a very rare malformation syndrome characterized by ulnar hypoplasia associated with hypoplastic to absent fourth and/or fifth digits, fibular hypoplasia, short stature and facial dysmorphism.

ULNAR/FIBULA RAY DEFECT-BRACHYDACTYLY SYNDROME Is also known as morava-mehes syndrome

• Short stature
• Growth delay
• Brachydactyly
• Frontal bossing
• Talipes equinovarus

SOURCES: OMIM ORPHANET MESH MENDELIAN

Low match BRACHYDACTYLY-SYNDACTYLY, ZHAO TYPE

Brachydactyly-syndactyly, Zhao type is a recently described syndrome associating a brachydactyly type A4 (short middle phalanges of the 2nd and 5th fingers and absence of middle phalanges of the 2nd to 5th toes) and a syndactyly of the 2nd and 3rd toes. Metacarpals and metatarsals anomalies are common.

• Brachydactyly
• Syndactyly
• Camptodactyly
• Finger syndactyly
• Toe syndactyly

SOURCES: ORPHANET MESH OMIM MENDELIAN

Low match BRACHYDACTYLY TYPE A2

Brachydactyly type A2 (BDA2) is a congenital malformation characterized by shortening (hypoplasia or aplasia) of the middle phalanges of the index finger and, sometimes, of the little finger.

BRACHYDACTYLY TYPE A2 Is also known as brachydactyly, mohr-wriedt type|brachymesophalangy ii|mohr-wriedt type brachydactyly

• Short stature
• Brachydactyly
• Clinodactyly
• Clinodactyly of the 5th finger
• Short foot

SOURCES: OMIM ORPHANET MESH MENDELIAN

Low match SYNPOLYDACTYLY TYPE 1

Synpolydactyly (SPD), or syndactyly type II, is defined as a connection between the middle and ring fingers and fourth and fifth toes, variably associated with postaxial polydactyly in the same digits. Minor local anomalies and various metacarpal or metatarsal abnormalities may be present (summary by Merlob and Grunebaum, 1986).In some families with SPD, the foot anomalies are characterized by preaxial as well as postaxial polydactyly, and appear to be fully penetrant. The more severe features of classic SPD, involving 3/4 synpolydactyly in the hands and 4/5 synpolydactyly in the feet, also occur, but at reduced penetrance. This foot phenotype is not seen in patients with classic SPD due to HOXD13 polyalanine tract expansions (Goodman et al., 1998).Malik (2012) reviewed the syndactylies, noting that the extreme phenotypic heterogeneity observed in SPD families consists of approximately 18 clinical variants that can be 'lumped' into 3 categories: typical SPD features, minor variants, and unusual phenotypes. Genetic Heterogeneity of SynpolydactylySee also SPD2 (OMIM ), caused by mutation in the fibulin-1 gene (FBLN1 ) on chromosome 22q13, and SPD3 (OMIM ), which has been mapped to chromosome 14q11.2-q12.

SYNPOLYDACTYLY TYPE 1 Is also known as syndactyly, type ii|synpolydactyly, vordingborg type|spd, vordingborg type|sd2a|sdty2|spd1|sd2, vordingborg type

• Brachydactyly
• Syndactyly
• Clinodactyly
• Clinodactyly of the 5th finger
• Polydactyly

SOURCES: ORPHANET OMIM MENDELIAN

Low match BRACHYDACTYLY TYPE B2

Brachydactyly type B2 is a rare, genetic congenital limb malformation disorder characterized by hypoplasia/aplasia of distal and/or middle phalanges in fingers and toes II-V (frequently severe in fingers/toes IV-V, milder in fingers/toes II-III) in association with proximal, and occasionally distal, symphalangism, fusion of carpal/tarsal bones and partial cutaneous syndactyly. Additional reported features include proximal placement of thumbs, sensorineural hearing loss and farsightedness.

• Sensorineural hearing impairment
• Brachydactyly
• Syndactyly
• Finger syndactyly
• Hypermetropia

SOURCES: ORPHANET OMIM MENDELIAN

Low match JEUNE SYNDROME

Jeune syndrome, also called asphyxiating thoracic dystrophy, is a short-rib dysplasia characterized by a narrow thorax, short limbs and radiological skeletal abnormalities including "trident" aspect of the acetabula and metaphyseal changes.

JEUNE SYNDROME Is also known as asphyxiating thoracic dystrophy of the newborn|jatd|jeune asphyxiating thoracic dystrophy

• Short stature
• Brachydactyly
• Respiratory insufficiency
• Renal insufficiency
• Skeletal dysplasia

SOURCES: ORPHANET MENDELIAN

Low match AUTOSOMAL DOMINANT DEAFNESS-ONYCHODYSTROPHY SYNDROME

Dominant deafness-onychodystrophy (DDOD) syndrome is a multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small terminal phalanges.

AUTOSOMAL DOMINANT DEAFNESS-ONYCHODYSTROPHY SYNDROME Is also known as ddod syndrome

• Intellectual disability
• Seizures
• Hearing impairment
• Sensorineural hearing impairment
• Abnormal facial shape

SOURCES: ORPHANET OMIM MENDELIAN

Low match JAWAD SYNDROME

Jawad syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly wih facial dysmorphism (sloping forehead, prominent nose, mild retrognathia), moderate to severe, non-progressive intellectual disability and symmetrical digital malformations of variable degree, including brachydactyly of the fifth fingers with single flexion crease, clinodactyly, syndactyly, polydactyly and hallux valgus. Congenital anonychia and white café au lait-like spots on the skin of hands and feet are also associated.

JAWAD SYNDROME Is also known as microcephaly with mental retardation and digital anomalies|kelly syndrome

• Intellectual disability
• Microcephaly
• Cryptorchidism
• Intellectual disability, severe
• Syndactyly

SOURCES: OMIM ORPHANET MENDELIAN